Elsevier

Neuroscience Letters

Volume 222, Issue 2, 31 January 1997, Pages 132-134
Neuroscience Letters

Presenilin-1 gene intronic polymorphism in sporadic and familial Azheimer's disease

https://doi.org/10.1016/S0304-3940(97)13345-6Get rights and content

Abstract

A recent observation has shown a genetic association between an intronic polymorphism in the Presenilin-1 (PS-1) gene and late onset Alzheimer's disease (AD). The homozygosity of the 1 allele in the PS-1 gene was associated with a doubling of the risk for late onset AD. However, contrasting results have been published. We analyzed the distribution of the PS-1 intronic polymorphism in patients with sporadic AD and in seven familial AD (FAD) families carrying pathogenetic mutations in the amyloid precursor protein (APP) and Presenilin (PS-1 and PS-2) genes. Significant differences in PS-1 allele frequencies were observed in the Presenilin genes mutated families but not in late onset AD patients and in APP mutated families.

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Acknowledgements

Supported by the Italian National Research Council (CNR) Targeted Project on Ageing (Grant no. 962653) S.S. was partially supported by Telethon-Italia (grant no. E.482).

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